发明名称 DIAGNOSTIC TECHNIQUE FOR HEREDITARY OPTIC NEUROPATHY
摘要 FIELD: medicine.SUBSTANCE: clinical and cytological examinations are conducted; additionally, the fibroblast culture of the density of 5,000-10,000 cells per cmis produced from the patient's skin and stained with TMRE mitochondrial voltage-dependent fluorescent dye to a final concentration of 25 nM. A mitochondrial fluorescence strength is measured in the culture prior to and 30 min after oligomycin is added to the final concentration of 10 mcM, and if observing an increase by no more than 7% therein or a decrease, hereditary optic neuropathy is diagnosed.EFFECT: improving diagnostic accuracy for conducting a specific treatment, predicting the clinical course in a proband, predicting for the proband relatives and posterity, as well as simplifying the technique.15 dwg, 4 ex
申请公布号 RU2566271(C9) 申请公布日期 2016.01.20
申请号 RU20140125713 申请日期 2014.06.25
申请人 FEDERAL'NOE GOSUDARSTVENNOE BJUDZHETNOE UCHREZHDENIE "NAUCHNO-ISSLEDOVATEL'SKIJ INSTITUT GLAZNYKH BOLEZNEJ" ROSSIJSKOJ AKADEMII MEDITSINSKIKH NAUK (FGBU "NIIGB" RAMN);FEDERAL'NOE GOSUDARSTVENNOE BJUDZHETNOE UCHREZHDENIE NAUKI INSTITUT BELKA ROSSIJSKOJ AKADEMII NAUK 发明人 AVETISOV SERGEJ EHDUARDOVICH;SHEREMET NATALIJA LEONIDOVNA;KHANAKOVA NATAL'JA ALEKSEEVNA;MININ ALEKSANDR ALEKSANDROVICH;VENKOVA LARISA SERGEEVNA;SVISTUNOVA DAR'JA MIKHAJLOVNA;CHERNOIVANENKO IVAN SERGEEVICH
分类号 G01N33/533 主分类号 G01N33/533
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